IthaID: 148


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 42/43 (+T) HGVS Name: HBB:c.129dupT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTACCCTTGGACCCAGAGGTTCTTT [-/T] GAGTCCTTTGGGGATCTGTCCACTC (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70853
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Oshima K, Harano T, Harano K, Japanese beta zero-thalassemia: molecular characterization of a novel insertion causing a stop codon., American journal of hematology, 52(1), 39-41, 1996
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-13 12:26:39 (Show full history)

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